Advances in sequencing technologies and breakthroughs in science have revolutionised the field of genetic data analysis and interpretation, making such services cost-effective and accessible to the general public. Every day, new genetic traits are being described, generating a continuously expanding catalogue of genetic variations that affect the health, wellbeing, and phenotype of living organisms, including humans, animals, microbes, fungi, and plants.
Identifying individual differences at a molecular level has allowed for a deeper layer of personalisation in medicine, such as for drug dosage and treatment selection, as well as in lifestyle improvement and management, by tailoring personal care products ranging from cosmetics and nutraceuticals, to services that enhance fitness, weight-loss regimes etc. A number of private companies have been created in order to cater for this growing consumer genetics market. Nevertheless, limitations in the technologies utilised restrict the commercialisation of such approaches to lab-based services, compromising delivery speed, business models and privacy.
Currently, an individual that wants to gain access to information related to his/her genetics, whether for a specific purpose/concern or for general interest, needs to go through the following process:
1) Order online a sample collection kit from the service provider;
2) Receive the kit and collect the biological sample (usually saliva)—at this stage, the customer may also be asked to fill in a questionnaire that will be analysed together with the genetic results;
3) Send the sample back to the service provider via post; the sample will then be processed by skilled lab staff using various genetic analysis assays; and
4) 4-8 weeks later, the customer will be sent electronically or via post a generic analysis report, listing his/her different variations in the DNA. In some cases, the service provider may make a product recommendation or offer a bespoke product designed or selected according to the client's genetic profile.
These conventional approaches require the customer to send his/her biological sample to some remote location, usually via post, in order to be processed and analysed. This introduces confidentiality concerns with regards to:
1) who analyses the biological sample and how and where this is done;
2) how and where the genetic information is stored, or safely discarded;
3) how is the customer's personal information linked to his/her genetic profile;
4) who can have access to the customer's genetic information;
5) in many cases, prior to releasing the genetic analysis report, the customer is asked to fill in questionnaires in relation to his/her medical history, lifestyle habits etc—sharing such information adds another level of concern.
At this point it should be highlighted that confidentiality concerns are not solely related to the genetic results, i.e. what genetic variants the customer carries, but also relate to the personal concerns that motivated the customer to consider having a genetic test, for instance predisposition to impotence, baldness, drug addiction, alcoholism etc. If this information were to become available to health insurance providers, potential employers etc, an individual could be “genetically stigmatised” and “classified”. The impact on an individual life could be enormous.
The majority of the currently available genetic services offer wide genome screening; e.g., using a predefined platform tagged with more than 100,000 biomarkers and screening irrespectively all client samples for all genetic biomarkers. This means that a high proportion of customers are being screened by default for genetic traits that they may not want to know about; for instance, an individual purchasing a test in order to determine his/her predisposition to detoxification will be also screened for serious neurodegenerative diseases such as Alzheimer's and Parkinson's disease. Giving a customer access to information related to concerns that the customer did not initially have, may have a detrimental effect on his or her socio/psychological balance.
A further disadvantage of many of the services available today is that much of the information provided remains greatly un-interpretable and, consequently, of no interest or relevance to the customer's day-to-day life. Whilst some services do offer to the customer personalised services or products, these may compromise the customer's freedom of choice and selection, and they do not take into account an individual's personality and idiosyncrasy, including lifestyle choices, as well as religious, political, and cultural beliefs. For instance, a diet plan high in red meat intake may be recommended for a person who is genetically prone to not absorbing iron, even if the person is vegetarian or simply dislikes red meat. Another example might be a service that provides a tailored personal care product, based on a customer's genetic traits, which has been tested on animals. Such a product, even if specifically designed to the individual's genetic profile, may conflict with his/her views on animal welfare.
Finally, it will be appreciated that in a fast moving world where time is a very important choice-making criterion, the speed with which results are provided is key. The fact that, currently, a biological sample has to be sent off remotely to a laboratory to be processed, means the costumer can be waiting weeks or even months for the results. The longer the time gap between ordering a genetic test and receiving the results/recommended product, the more likely it will be that the customer fails to follow-up with associated purchases.
Taking into consideration the above, it becomes apparent that genetic services that require the sending of biological samples to be processed remotely are often not very attractive from a consumer and/or a business point-of-view, i.e. “do I have a particular condition or trait?”, rather than “what actions do I need to take to address a particular trait or condition?”. Furthermore, currently genetic results are generally problem-based rather than solution-based. This highlights the desire for services offering genetic testing that a) can be performed by the consumer in his/her own private environment, b) are based on targeted genetic traits due to the customer's specific concerns, c) provide immediate, actionable results, and d) are delivered quickly, reliably, and securely.
The relative complexity and high cost of instruments and procedures for performing SNP genotyping represents a significant barrier to performing tests in a non-technical environment such as the home or a retail premise.
Examples of currently available SNP genotyping systems include those available from Cepheid, Sunnyvale Calif., USA.
Methods and apparatus for analysing and detecting biological samples which utilise the functionality of mobile devices such as smartphones are known. WO2013010178 and WO2014113785 for example describe an instrument with which a smartphone can be docked enabling use of the smartphone's camera to monitor a visual change indicative of a detection event. A related smartphone based system is also considered in “High-Throughput Optical Sensing Immunoassays on Smartphone”, Anal. Chem., 2016, 88 (16), pp 8302-8308, Li-Ju Wang et al, and in “Fluorescent Imaging of Single Nanoparticles and Viruses on a Smart Phone’, ACS Nano 2013, 7 (10), pp 9147-9155, Qingshan Weri et al.